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| Title : Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband - Argyropoulos_1998_J.Lipid.Res_39_1870 |
| Author(s) : Argyropoulos G , Jenkins A , Klein RL , Lyons T , Wagenhorst B , St Armand J , Marcovina SM , Albers JJ , Pritchard PH , Garvey WT |
| Ref : J Lipid Res , 39 :1870 , 1998 |
| Abstract : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| ESTHER : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| PubMedSearch : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| PubMedID: 9741700 |
| Title : Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea - Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| Author(s) : Blanco-Vaca F , Qu SJ , Fiol C , Fan HZ , Pao Q , Marzal-Casacuberta A , Albers JJ , Hurtado I , Gracia V , Pinto X , Marti T , Pownall HJ |
| Ref : Arterioscler Thromb Vasc Biol , 17 :1382 , 1997 |
| Abstract : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| ESTHER : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| PubMedSearch : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| PubMedID: 9261271 |
| Title : A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency - Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| Author(s) : Okubo M , Aoyama Y , Shio H , Albers JJ , Murase T |
| Ref : Int J Clin Lab Res , 26 :250 , 1996 |
| Abstract : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| ESTHER : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| PubMedSearch : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| PubMedID: 9007616 |
| Title : Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA - Miller_1995_J.Lipid.Res_36_931 |
| Author(s) : Miller M , Zeller K , Kwiterovich PC , Albers JJ , Feulner G |
| Ref : J Lipid Res , 36 :931 , 1995 |
| Abstract : Miller_1995_J.Lipid.Res_36_931 |
| ESTHER : Miller_1995_J.Lipid.Res_36_931 |
| PubMedSearch : Miller_1995_J.Lipid.Res_36_931 |
| PubMedID: 7658165 |
| Title : Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser) - Moriyama_1995_J.Lipid.Res_36_2329 |
| Author(s) : Moriyama K , Sasaki J , Arakawa F , Takami N , Maeda E , Matsunaga A , Takada Y , Midorikawa K , Yanase T , Yoshino G , Marcovina SM , Albers JJ , Arakawa K |
| Ref : J Lipid Res , 36 :2329 , 1995 |
| Abstract : Moriyama_1995_J.Lipid.Res_36_2329 |
| ESTHER : Moriyama_1995_J.Lipid.Res_36_2329 |
| PubMedSearch : Moriyama_1995_J.Lipid.Res_36_2329 |
| PubMedID: 8656071 |
| Title : Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease - Funke_1993_J.Clin.Invest_91_677 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Hornby AE , Wiebusch H , Motti C , Hayden MR , Dachet C , Jacotot B , Gerdes U , Faergeman O , Albers JJ , Colleoni N , Catapano A , Frohlich J , Assmann G |
| Ref : J Clinical Investigation , 91 :677 , 1993 |
| Abstract : Funke_1993_J.Clin.Invest_91_677 |
| ESTHER : Funke_1993_J.Clin.Invest_91_677 |
| PubMedSearch : Funke_1993_J.Clin.Invest_91_677 |
| PubMedID: 8432868 |
| Gene_locus related to this paper: human-LCAT |
| Title : Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn) - Klein_1993_J.Lipid.Res_34_49 |
| Author(s) : Klein HG , Lohse P , Duverger N , Albers JJ , Rader DJ , Zech LA , Santamarina-Fojo S , Brewer HB, Jr. |
| Ref : J Lipid Res , 34 :49 , 1993 |
| Abstract : Klein_1993_J.Lipid.Res_34_49 |
| ESTHER : Klein_1993_J.Lipid.Res_34_49 |
| PubMedSearch : Klein_1993_J.Lipid.Res_34_49 |
| PubMedID: 8445342 |
| Title : Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis - Klein_1993_J.Clin.Invest_92_479 |
| Author(s) : Klein HG , Santamarina-Fojo S , Duverger N , Clerc M , Dumon MF , Albers JJ , Marcovina S , Brewer HB, Jr. |
| Ref : J Clinical Investigation , 92 :479 , 1993 |
| Abstract : Klein_1993_J.Clin.Invest_92_479 |
| ESTHER : Klein_1993_J.Clin.Invest_92_479 |
| PubMedSearch : Klein_1993_J.Clin.Invest_92_479 |
| PubMedID: 8326012 |
| Title : Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent - Kastelein_1992_J.Intern.Med_231_413 |
| Author(s) : Kastelein JJ , Pritchard PH , Erkelens DW , Kuivenhoven JA , Albers JJ , Frohlich JJ |
| Ref : J Intern Med , 231 :413 , 1992 |
| Abstract : Kastelein_1992_J.Intern.Med_231_413 |
| ESTHER : Kastelein_1992_J.Intern.Med_231_413 |
| PubMedSearch : Kastelein_1992_J.Intern.Med_231_413 |
| PubMedID: 1588268 |
| Title : Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency - Gotoda_1991_Lancet_338_778 |
| Author(s) : Gotoda T , Yamada N , Murase T , Sakuma M , Murayama N , Shimano H , Kozaki K , Albers JJ , Yazaki Y , Akanuma Y |
| Ref : Lancet , 338 :778 , 1991 |
| Abstract : Gotoda_1991_Lancet_338_778 |
| ESTHER : Gotoda_1991_Lancet_338_778 |
| PubMedSearch : Gotoda_1991_Lancet_338_778 |
| PubMedID: 1681161 |
| Gene_locus related to this paper: human-LCAT |
| Title : A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity - Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| Author(s) : Funke H , von Eckardstein A , Pritchard PH , Albers JJ , Kastelein JJ , Droste C , Assmann G |
| Ref : Proc Natl Acad Sci U S A , 88 :4855 , 1991 |
| Abstract : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| ESTHER : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedSearch : Funke_1991_Proc.Natl.Acad.Sci.U.S.A_88_4855 |
| PubMedID: 2052566 |
| Title : Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: evidence for functionally defective enzyme in homozygotes and obligate heterozygotes - Albers_1982_Hum.Genet_62_82 |
| Author(s) : Albers JJ , Chen CH , Adolphson JL , Sakuma M , Kodama T , Akanuma Y |
| Ref : Hum Genet , 62 :82 , 1982 |
| Abstract : Albers_1982_Hum.Genet_62_82 |
| ESTHER : Albers_1982_Hum.Genet_62_82 |
| PubMedSearch : Albers_1982_Hum.Genet_62_82 |
| PubMedID: 7152525 |
| Title : Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass - Albers_1981_Hum.Genet_58_306 |
| Author(s) : Albers JJ , Chen C , Adolphson JL |
| Ref : Hum Genet , 58 :306 , 1981 |
| Abstract : Albers_1981_Hum.Genet_58_306 |
| ESTHER : Albers_1981_Hum.Genet_58_306 |
| PubMedSearch : Albers_1981_Hum.Genet_58_306 |
| PubMedID: 7327552 |
| Title : Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency - Albers_1981_Am.J.Hum.Genet_33_702 |
| Author(s) : Albers JJ , Utermann G |
| Ref : American Journal of Human Genetics , 33 :702 , 1981 |
| Abstract : Albers_1981_Am.J.Hum.Genet_33_702 |
| ESTHER : Albers_1981_Am.J.Hum.Genet_33_702 |
| PubMedSearch : Albers_1981_Am.J.Hum.Genet_33_702 |
| PubMedID: 7294021 |